M1V (p.Met1Val) variant of TMEM127 (Transmembrane protein 127)
M1V (p.Met1Val) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1553437759
- ClinGen CA347656382
- ClinVar RCV000579097
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.77
- MetaSVM 0.37
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available